1,159 research outputs found
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 2; peer review: 1 approved, 3 approved with reservations]
Displasias Ectodérmicas
Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn helps to explain clinical signs, with variability in severity, associated non-ectodermal abnormalities and overlap seen in many patients. We herein review the current state of knowledge regarding this distinct entity and illustrate with an elucidative case report. The need for early multidisciplinary intervention is highlighted, and further studies will focus on genetically-target therapeutic approaches.As displasias ectodérmicas representam um grupo heterogéneo de doenças hereditárias raras. Os achados moleculares e o esclarecimento dos processos de sinalização celular e da interação ectoderme-mesênquima permitiram compreender os sinais clínicos. Estes caracterizam-se por gravidade variável, observando-se associação a anomalias não ectodérmicas e sobreposição clínica em muitos pacientes. No presente trabalho resumimos o estado atual do conhecimento sobre as displasias ectodérmicas e apresentamos ainda um relato de caso ilustrativo. Salientamos a necessidade de intervenção multidisciplinar precoce, sendo necessários estudos futuros com enfoque em abordagens terapêuticas geneticamente direcionadas.info:eu-repo/semantics/publishedVersio
Functional Outcome of Endovascular Treatment in Patients With Acute Ischemic Stroke With Large Vessel Occlusion: Mothership Versus Drip-and-Ship Model in a Portuguese Urban Region
Introduction Endovascular treatment (EVT) with mechanical thrombectomy and acute carotid stenting has become an integral part of the treatment of acute ischemic stroke with large vessel occlusion. Despite being included in the most recent stroke guidelines, only comprehensive centers can offer EVT and thus patients frequently need to be transferred from primary hospitals. We aimed to assess which pre-hospital model of care - direct admission to a comprehensive stroke center (mothership) or transfer to a comprehensive stroke center after the first admission to the nearest hospital (drip-and-ship) - had the most benefit in stroke patients in a Portuguese urban region. Methods We selected patients admitted to a comprehensive stroke center who underwent EVTs between January 2018 and December 2020, in Lisbon, Portugal. We used data from the Safe Implementation of Treatments in Stroke (SITS) International registry on stroke severity, previous modified Rankin Scale (mRS), time from symptom onset to the first admission, time from symptom onset to the procedure, and mRS three months post stroke. We defined an unfavorable outcome as having an mRS >2 at three months post stroke. For patients with previous mRS >2, an unfavorable outcome was defined as any increase in mRS at three months post stroke. Results We analyzed the data of 1154 patients, of which 407 were admitted through a mothership approach and 747 through a drip-and-ship approach. Both groups were similar regarding sociodemographic characteristics, stroke risk factors, previous disability, and stroke severity. Median onset-to-door time was higher (126 vs 110 minutes, p-value=0.002) but onset-to-procedure time was lower (199 vs 339 minutes, p-value<0.001) in the mothership group. The mothership group had a higher proportion of patients with mRS <3 at three months post stroke than the drip-and-ship group (41.3% vs 34.9%, p-value=0.035). Mortality was similar in both groups. A multivariate logistic regression model confirmed a lower probability of unfavorable outcomes with the mothership approach (OR = 0.677, 95% CI 0.514-0.892, p-value=0.006). Surprisingly, onset-to-procedure time did not have an impact on functional outcomes. Conclusion Our findings show that the mothership model results in better functional outcomes for patients with acute ischemic stroke with large vessel occlusion. Further studies are needed to better define patient selection for this strategy and the impact of a mothership model in comprehensive stroke centers.info:eu-repo/semantics/publishedVersio
Contributions to the Portuguese National Plan for Patient Safety 2021–2026: A Robust Methodology Based on the Mixed-Method Approach
Introduction: Several countries prioritize patient safety in
their health policies. In Portugal, following the implementation of the National Plan for Patient Safety (NPPS) 2015–
2020, the research team of the National School of Public
Health (NSPH) carried out extensive work to continue improving aspects of the previous Plan. This work was focused
on identifying the strengths and weaknesses of NPPS 2015–
2020 and aspects related to its applicability and main challenges and opportunities for the implementation of the
NPPS 2021–2026. Methods: Methodological dynamic process was based on the most relevant international and national guidelines and the feedback from key patient safety
stakeholders. We developed a cross-sectional mixed-methods study from January to August 2021. We used documentation and periodical reports from National Health Service
(NHS) healthcare institutions as secondary sources of information. For primary data collection, we used an online survey (applied to elements in the different quality and safety
structures of hospitals and primary care units), interviews, and focus groups to collect information from patient safety
experts. Results and Discussion: Strengthening safety culture, patient safety training, communication, leadership involvement, patient and family engagement, and monitorization process is considered essential. We also identified local
limitations such as the lack of resources and protected time
for the healthcare professionals and lack of leadership involvement on patient safety strategies for dedicating to patient safety actions. Most of the patient safety stakeholders
agreed that the safety and health of clinical teams and new
modalities of healthcare (such as telemedicine, home hospitalization, home care) should be a priority for patient safety
strategies. Conclusions: In our study, we used a robust methodology with a participatory process involving different
stakeholders. An alignment between local, regional, and national levels in terms of measuring indicators, the definition
of priorities, and actions and activities to improve patient
safety is recommended. Reinforced partnerships and alignment between the institution’s mission, and safety priorities
will be crucial to enhance patient safety. Additionally, this
work highlights the added value for health systems achieved
through strong partnerships between public administration
and academic institutions to improve healthcare quality and
patient safetyinfo:eu-repo/semantics/publishedVersio
Antibiosis in Ascia monuste orseis Godart (Lepidoptera: Pieridae) caused by kale genotypes
Ascia monuste orseis (Lepidoptera: Pieridae) is one of the main insect pests of kale. The study was done to identify kale varieties resistant to A. monuste orseis by the antibiosis resistance mechanism. Kale genotypes (26) were evaluated in experiments performed at the Laboratory of Agricultural Entomology of Goiano Federal Institute - Campus Urutaí. A completely randomized experimental design with 50 replicates was used. The biological parameters evaluated were (a) larval stage: development time, instars, viability and larval weight 15 days after hatching; (b) pupal stage: development time, weight of 24-h-old pupae, viability; (c) larvae-adult stage: development time and viability. The genotypes Gigante I-915 and Pires 1 de Campinas have antibiosis resistance. Gigante I-915 caused high larval mortality and Pires 1 de Campinas resulted in low larval and pupal viability of A. monuste orseis.Key words: Brassica oleracea L. var. acephala, Brassicaceae, Great Southern White, host plant resistance, integrated pest management (IPM)
Feocromocitoma: estudo retrospetivo multicêntrico
Objetivo: O feocromocitoma é um tumor raro com origem no tecido cromafim. Para avaliar a epidemiologia característica e abordagem destes tumores, foi efetuado um estudo multicêntrico retrospetivo em
doentes com feocromocitoma.
Material e métodos: Estudo retrospetivo, desenvolvido em 12 centros, incluiu 176 doentes tratados entre
1986-2011. Efetuado um questionário que incluiu dados epidemiológicos, clínicos, doseamentos laboratoriais, exames de localizac¸ ão, estudo genético, preparac¸ ão pré-operatória e cirurgia. De acordo com
a data de diagnóstico, os doentes foram divididos em 2 períodos de tempo, 1986-2000 e 2001-2011, e
alguns dados foram comparados.
Resultados: Cento e cinco mulheres e 70 homens, idade média 51,9 ± 15,2 anos. Em 172 doentes, a
apresentac¸ ão clínica foi: 31% incidentalomas, 10% paroxismos típicos, 18% hipertensão persistente e 5%
detetados durante rastreio genético. Onze por cento tinham outros sintomas clínicos de feocromocitoma
e 25% uma mistura de 2 ou mais quadros clínicos. Os exames laboratoriais mais frequentes foram as
catecolaminas urinárias e seus metabolitos urinários.
Em 154 doentes, foi localizado por TAC em 84%, RMN em 41% e a cintigrafia com MIBG em 55%.
A dimensão média do tumor foi 55,3 ± 33,7 mm, 56% na suprarrenal direita e 7% bilateral. O tratamento
pré-operatório em 126 casos foi: fenoxibenzamina em 65% dos doentes e associada a um betabloqueador
em 29,3%.
Em 170 doentes, 91 efetuaram laparotomia (54%) e 74 laparoscopia (44%). Cinco doentes não efetuaram
cirurgia. Em 9 doentes foi diagnosticado feocromocitoma maligno, 3 na altura do diagnóstico inicial e
6 durante o seguimento (após 6-192 meses).
Em 19 doentes foi efetuado o diagnóstico de uma síndrome genética.
Conclusões: Trinta e um por cento dos tumores foram detetados como incidentalomas. A suprarrenal
direita foi mais atingida. Observou-se um aumento do n
◦ de diagnósticos de feocromocitoma e um melhor
estudo e estadiamento nos doentes diagnosticados entre 2001 e 2011 comparativamente com os diagnosticados entre 1986 e 2000. Dado que a malignidade se pode manifestar tardiamente, o seguimento
destes doentes deve ser para toda a vida.info:eu-repo/semantics/publishedVersio
Mechanical Thrombectomy in Stroke in Nonagenarians: Useful or Futile?
Background: Mechanical thrombectomy is the standard treatment in acute ischemic stroke due to large vessel occlusion, but there is limited evidence about its efficacy in very old patients. We sought to analyse safety and effectiveness of mechanical thrombectomy in nonagenarian versus octagenarian patients.
Methods: We included consecutive patients with acute ischemic stroke due to large vessel occlusion subjected to mechanical thrombectomy, during 29 months in a tertiary center. Patients were divided into two sub-groups, according to age: 80-89 and >90 years old. Recanalization, complications, functional outcome and mortality at discharge and at 3 months were compared. Multivariable analysis was performed to identify independent predictors of functional outcome at 3 months of follow-up, assessed by the modified Rankin Scale.
Results: A total of 128 octogenarians (88.9%) and 16 nonagenarians (11.1%) met the inclusion criteria. Successful revascularization was achieved in 87.5% of octagenarians and in 81.3% of nonagenarians (p = 0.486). Symptomatic hemorrhage occurred in 3.1% and 6.3% of younger and older patients, respectively (p = 0.520). Cerebral edema occured in 35.2% of octagenarians versus 25.0% of nonagenarians (p = 0.419). Functional independence (mRS ≤ 2) at 3 months was achieved in 28 (22.6%) and 5 (31.3%) of octagenarians and nonagenarians, respectively (p = 0.445). Mortality at 3 months was not significantly higher in nonagenarians (37.5%) versus octagenarians (33.9%, p = 0.773).
Conclusions: No significant diferences were found in functional outcome, mortality, recanalization and complication rates between octagenarians and nonagenarians submitted to mechanical thrombectomy, underlining that patients should not be excluded from mechanical thrombectomy based on age alone.info:eu-repo/semantics/publishedVersio
CMOS nanophotonic sensor with integrated readout system
The measurement of nanophotonic sensors currently requires the use of external measuring equipment for their read-out such as an optical spectrum analyzer, spectrophotometer, or detectors. This requirement of external laboratory-based measuring equipment creates a “chip-in-a-lab” dilemma and hinders the use of nanophotonic sensors in practical applications. Making nanophotonic sensors usable in everyday life requires miniaturization of not only the sensor chip itself but also the equipment used for its measurement. In this paper, we have removed the need of external measuring equipment by monolithically integrating 1-D grating structures with a complementary metal-oxide-semiconductor (CMOS) integrated circuit having an array of photodiodes. By doing so, we get a direct electrical read-out of the refractive index changes induced when applying different analytes to grating structures. The gratings are made of CMOS compatible silicon nitride. Employing a nanophotonic sensor made of CMOS compatible material allows fabrication of the integrated sensor chip in a commercial CMOS foundry, enabling mass production for commercialization with low cost. Our results present a significant step toward transforming present laboratory-based nanophotonic sensors into practical portable devices to enable applications away from the analytical laboratory. We anticipate the work will have a major impact on technology for personalized medicine, environmental, and industrial sensing
Sleep and Awakening Quality during COVID-19 Confinement: Complexity and Relevance for Health and Behavior
Objective: The aim of this study was to evaluate sleep and awakening quality (SQ and AQ) during COVID-19 in a large and diversified population in order to identify significant associations and risks in terms of demography, health and health-related behaviors, sleep variables, mental health, and attitudes. Methods/Results:Online surveys were used for data collection, received from 5479 individuals from the general population, sleep disorder patients, and COVID-involved (medical doctors (MDs) and nurses) and COVID-affected professionals (teachers, psychologists, and dentists). SQ and AQ were worse in adults, females, and high-education subjects. Feeling worse, having economic problems, depression, anxiety, irritability, and a high Calamity Experience Check List (CECL) score during COVID were significantly associated with poor SQ and AQ. Shorter sleep duration, increased latency, poor nutrition, low physical activity, increased mobile and social network use, more negative and less positive attitudes and behaviors were associated with poor AQ. Conclusions: The SQ logistic regression showed gender, morbidities, CECL, and awakenings as relevant, whereas, for AQ, relevant variables further included age and physical activity. Aiming to have a high stress compliance, each individual should sleep well, have important control of their mood, practice positive behaviors while dismissing negative behaviors and attitudes, practice exercise, have adequate nutrition, and beware of technologies and dependences
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